Reitter B, Mortier W, Wille L
Acta Paediatr Scand. 1979 Sep;68(5):773-8. doi: 10.1111/j.1651-2227.1979.tb18457.x.
Two neonates showing generalized hypotonia, weakness of limbs, trunk, and oral musculature died because of muscular respiratory distress. The diagnosis of centronuclear (or myotubular) myopathy was established by histological and histochemical techniques. The genetic situation and routine laboratory data including electromyography were compared with similar cases in the literature; findings were inconclusive with respect to this diagnosis. These results indicate the need for a muscle biopsy and the use of histochemical stainings and/or electronmicroscopical investigation for a proper diagnosis in hypotonic newborns under respiratory distress after exclusion of etiologies other than neuromuscular diseases. Still the diagnosis of centronuclear myopathy in a neonate does not allow a precise prognosis. Increased awareness of this disorder and adequate diagnostic workup is needed in order to extend our understanding and to clarify the prognosis.
两名新生儿表现出全身肌张力减退、四肢、躯干和口腔肌肉无力，因肌肉性呼吸窘迫死亡。通过组织学和组织化学技术确诊为中央核（或肌管）肌病。将遗传情况和包括肌电图在内的常规实验室数据与文献中的类似病例进行了比较；关于这一诊断，结果尚无定论。这些结果表明，对于呼吸窘迫的低张力新生儿，在排除神经肌肉疾病以外的病因后，需要进行肌肉活检，并使用组织化学染色和/或电子显微镜检查以做出正确诊断。然而，新生儿中央核肌病的诊断仍无法得出精确的预后。需要提高对这种疾病的认识并进行充分的诊断检查，以扩展我们的理解并明确预后。
